Combining clinical, radiological and genetic approaches to pneumothorax management

Research output: Contribution to journalArticlepeer-review


Familial spontaneous pneumothorax (FSP) accounts for 10% of primary spontaneous pneumothoraces. Appropriate investigation of FSP enables early diagnosis of serious monogenic diseases and the practice of precision medicine. Here, we show that a pneumothorax genetics multidisciplinary team (MDT) can efficiently diagnose a range of syndromic causes of FSP. A sizeable group (73.6%) of clinically unclassifiable FSPs remains. Using whole genome sequencing we demonstrate that most of these cases are not known monogenic disorders. Therefore, clinico-radiological assessment by an MDT has high sensitivity for currently known clinically important monogenic causes of FSP, which has relevance for the design of efficient pneumothorax services.

Original languageEnglish
Pages (from-to)196-198
Number of pages3
Issue number2
Early online date18 Jun 2021
Publication statusPublished - Feb 2022


  • Humans
  • Pneumothorax/diagnostic imaging
  • Precision Medicine


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